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Gene: MLPH |
Gene summary for MLPH |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MLPH | Gene ID | 79083 |
| Gene name | melanophilin | |
| Gene Alias | SLAC2-A | |
| Cytomap | 2q37.3 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | A0A024R4D3 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 79083 | MLPH | RNA-P25T1-P25T1-2 | Human | Lung | AIS | 4.51e-07 | 4.36e-01 | -0.1941 |
| 79083 | MLPH | RNA-P25T1-P25T1-3 | Human | Lung | AIS | 5.39e-06 | 4.45e-01 | -0.2107 |
| 79083 | MLPH | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 1.39e-16 | 7.06e-01 | -0.2119 |
| 79083 | MLPH | RNA-P6T2-P6T2-1 | Human | Lung | IAC | 7.31e-18 | 1.68e-01 | -0.0166 |
| 79083 | MLPH | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 1.42e-21 | 2.31e-01 | -0.0132 |
| 79083 | MLPH | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 2.50e-30 | 3.00e-01 | -0.013 |
| 79083 | MLPH | RNA-P6T2-P6T2-4 | Human | Lung | IAC | 3.10e-15 | 2.43e-01 | -0.0121 |
| 79083 | MLPH | RNA-P7T1-P7T1-1 | Human | Lung | AIS | 3.41e-06 | 1.21e-01 | -0.0961 |
| 79083 | MLPH | RNA-P7T1-P7T1-2 | Human | Lung | AIS | 1.91e-08 | 2.99e-01 | -0.0876 |
| 79083 | MLPH | RNA-P7T1-P7T1-3 | Human | Lung | AIS | 3.30e-09 | 2.54e-01 | -0.0822 |
| 79083 | MLPH | RNA-P7T1-P7T1-4 | Human | Lung | AIS | 1.43e-04 | 1.38e-01 | -0.0809 |
| 79083 | MLPH | GSM5252132_BPH389PrGF | Human | Prostate | BPH | 1.10e-02 | 2.21e-01 | -0.2247 |
| 79083 | MLPH | GSM5252135_BPH511PrPUr_Fcol_3GEX | Human | Prostate | BPH | 3.62e-12 | 5.32e-01 | -0.1833 |
| 79083 | MLPH | Dong_P1 | Human | Prostate | Tumor | 1.15e-08 | 8.25e-02 | 0.035 |
| 79083 | MLPH | Dong_P3 | Human | Prostate | Tumor | 1.56e-07 | 1.45e-01 | 0.0278 |
| 79083 | MLPH | Dong_P4 | Human | Prostate | Tumor | 1.54e-07 | 2.73e-01 | 0.0292 |
| 79083 | MLPH | Dong_P5 | Human | Prostate | Tumor | 5.13e-05 | 2.16e-02 | 0.053 |
| 79083 | MLPH | GSM5353221_PA_PB2A_Pool_1_3_S25_L001 | Human | Prostate | Tumor | 3.86e-09 | 4.66e-01 | 0.1633 |
| 79083 | MLPH | GSM5353222_PA_PB2B_Pool_1_3_S52_L002 | Human | Prostate | Tumor | 1.54e-05 | 3.49e-01 | 0.1608 |
| 79083 | MLPH | GSM5353223_PA_PB2B_Pool_2_S26_L001 | Human | Prostate | Tumor | 9.17e-05 | 4.27e-01 | 0.1604 |
| Page: 1 2 3 4 5 6 7 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:0051656 | Colorectum | AD | establishment of organelle localization | 131/3918 | 390/18723 | 3.00e-09 | 2.06e-07 | 131 |
| GO:0051650 | Colorectum | AD | establishment of vesicle localization | 57/3918 | 161/18723 | 1.47e-05 | 3.15e-04 | 57 |
| GO:0051648 | Colorectum | AD | vesicle localization | 59/3918 | 177/18723 | 7.83e-05 | 1.25e-03 | 59 |
| GO:00516561 | Colorectum | SER | establishment of organelle localization | 100/2897 | 390/18723 | 1.11e-07 | 6.79e-06 | 100 |
| GO:00516501 | Colorectum | SER | establishment of vesicle localization | 42/2897 | 161/18723 | 3.38e-04 | 5.35e-03 | 42 |
| GO:00516481 | Colorectum | SER | vesicle localization | 43/2897 | 177/18723 | 1.41e-03 | 1.53e-02 | 43 |
| GO:00516563 | Colorectum | FAP | establishment of organelle localization | 97/2622 | 390/18723 | 5.91e-09 | 9.48e-07 | 97 |
| GO:00516503 | Colorectum | FAP | establishment of vesicle localization | 48/2622 | 161/18723 | 1.56e-07 | 9.64e-06 | 48 |
| GO:00516483 | Colorectum | FAP | vesicle localization | 50/2622 | 177/18723 | 5.41e-07 | 2.72e-05 | 50 |
| GO:00516564 | Colorectum | CRC | establishment of organelle localization | 76/2078 | 390/18723 | 6.53e-07 | 4.50e-05 | 76 |
| GO:00516504 | Colorectum | CRC | establishment of vesicle localization | 39/2078 | 161/18723 | 1.82e-06 | 9.07e-05 | 39 |
| GO:00516484 | Colorectum | CRC | vesicle localization | 41/2078 | 177/18723 | 3.39e-06 | 1.50e-04 | 41 |
| GO:005165616 | Esophagus | HGIN | establishment of organelle localization | 90/2587 | 390/18723 | 4.27e-07 | 1.94e-05 | 90 |
| GO:005165010 | Esophagus | HGIN | establishment of vesicle localization | 35/2587 | 161/18723 | 3.89e-03 | 3.54e-02 | 35 |
| GO:005164810 | Esophagus | HGIN | vesicle localization | 37/2587 | 177/18723 | 6.03e-03 | 4.87e-02 | 37 |
| GO:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
| GO:005165016 | Esophagus | ESCC | establishment of vesicle localization | 114/8552 | 161/18723 | 8.20e-11 | 2.53e-09 | 114 |
| GO:005164815 | Esophagus | ESCC | vesicle localization | 119/8552 | 177/18723 | 5.16e-09 | 1.08e-07 | 119 |
| GO:00330593 | Esophagus | ESCC | cellular pigmentation | 40/8552 | 53/18723 | 9.67e-06 | 9.21e-05 | 40 |
| GO:00434731 | Esophagus | ESCC | pigmentation | 59/8552 | 98/18723 | 2.64e-03 | 1.12e-02 | 59 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| MLPH | SNV | Missense_Mutation | rs371642307 | c.592N>C | p.Glu198Gln | p.E198Q | Q9BV36 | protein_coding | deleterious(0.02) | probably_damaging(0.981) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
| MLPH | SNV | Missense_Mutation | c.943N>A | p.Asp315Asn | p.D315N | Q9BV36 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-AO-A0J3-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | SD | |
| MLPH | SNV | Missense_Mutation | c.404C>T | p.Ala135Val | p.A135V | Q9BV36 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MLPH | SNV | Missense_Mutation | novel | c.894N>G | p.Ile298Met | p.I298M | Q9BV36 | protein_coding | tolerated(0.22) | benign(0.143) | TCGA-C8-A8HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| MLPH | SNV | Missense_Mutation | c.943G>A | p.Asp315Asn | p.D315N | Q9BV36 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| MLPH | SNV | Missense_Mutation | c.278N>A | p.Gly93Asp | p.G93D | Q9BV36 | protein_coding | deleterious(0.02) | benign(0.372) | TCGA-GM-A2DH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | CR | |
| MLPH | SNV | Missense_Mutation | novel | c.1045N>A | p.Ser349Thr | p.S349T | Q9BV36 | protein_coding | tolerated(0.11) | benign(0.272) | TCGA-LL-A8F5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
| MLPH | insertion | Frame_Shift_Ins | novel | c.784_785insAAGTG | p.Pro262GlnfsTer64 | p.P262Qfs*64 | Q9BV36 | protein_coding | TCGA-AQ-A04J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
| MLPH | insertion | Frame_Shift_Ins | novel | c.785_786insCTGGAAAGCCTCAGGGCTTG | p.Thr263TrpfsTer68 | p.T263Wfs*68 | Q9BV36 | protein_coding | TCGA-AQ-A04J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
| MLPH | SNV | Missense_Mutation | rs767964025 | c.147N>C | p.Lys49Asn | p.K49N | Q9BV36 | protein_coding | deleterious(0) | probably_damaging(0.944) | TCGA-EK-A2RJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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